I32V (p.Ile32Val) variant of ASS1 (Argininosuccinate synthase)
I32V (p.Ile32Val) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs142221856
- ClinGen CA200603573
- ClinVar RCV002034332
- ESP rs142221856
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.46
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.68
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available